The Official Website of the Acid Maltase Deficiency Association

It is difficult to say what is impossible for the dreams of yesterday are the hopes of today and the reality of tomorrow. - Robert H. Goddard

Publications

Over the last several years there have been numerous papers published on the subject of Pompe disease and Pompe disease research. The following is a partial list (in chronological order) of these publications.

  • May 2014

    Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease

    The FASEB Journal (May 2014) Courtesy of Sharon Krueger

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  • January 2014

    The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

    Science Signaling

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  • January 2014

    Increased aortic stiffness and blood pressure in non-classic Pompe disease

    Journal of Inherited Metabolic Disorders

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  • January 2014

    The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

    Acta Neuropathologica Communications

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  • November 2013

    Phenotypical variation within 22 families with Pompe disease

    Orphanet Journal of Rare Diseases

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  • October 2013

    The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

    Orphanet Journal of Rare Diseases

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  • October 2013

    Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

    Orphanet Journal of Rare Diseases

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  • October 2013

    Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)

    Acta Myologica

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  • August 2013

    A Large-Scale Nationwide Newborn Screening Program for Pompe Disease in Taiwan: Towards Effective Diagnosis and Treatment

    American Journal of Medical Genetics

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  • June 2013

    Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material- Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT

    PLOS ONE

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  • June 2013

    Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

    Orphanet Journal of Rare Diseases

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  • June 2013

    Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease

    Journal of Neurology

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  • June 2013

    Pain in adult patients with Pompe disease: A cross-sectional survey

    Molecular Genetics and Metabolism

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  • June 2013

    Intrapleural Administration of AAV9 Improves Neural and Cardiorespiratory Function in Pompe Disease

    The American Society of Gene and Cell Therapy

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  • May 2013

    A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function

    BMC Musculoskeletal Disorders

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  • May 2013

    Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

    Italian Journal of Pediatrics

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  • March 2013

    Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

    Orphanet Journal of Rare Diseases

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  • March 2013

    Enzyme replacement therapy and fatigue in adults with Pompe disease

    Molecular Genetics and Metabolism

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  • March 2013

    B-Cell Depletion and Immunomodulation before Initiation of Enzyme Replacement Therapy Blocks the Immune Response to Acid Alpha-Glucosidase in Infantile-Onset Pompe Disease

    Journal of Pediatrics

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  • February 2013

    Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

    EMBO Molecular Medicine

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  • January 2013

    Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

    The Journal of Biological Chemistry

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  • November 2012

    Case Report: Management of a Pregnancy Complicated by Pompe Disease

    Obstetrics and Gynecology

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  • November 2012

    Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

    Orphanet Journal of Rare Diseases

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  • October 2012

    The Rasch-built Pompe-specific Activity (R-PAct) scale

    Neuromuscular Disorders

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  • September 2012

    Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

    Orphanet Journal of Rare Diseases

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  • September 2012

    Severely impaired health status at diagnosis of Pompe disease: A cross-sectional analysis to explore the potential utility of neonatal screening

    Molecular Genetics and Metabolism

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  • August 2012

    Immune modulation in Pompe disease treated with enzyme replacement therapy

    Expert Reviews in Clinical Immunology

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  • June 2012

    Letter to the Editor: "Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition"

    European Neurology

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  • June 2012

    A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

    Orphanet Journal of Rare Diseases

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  • June 2012

    Deficiency in MyD88 Signaling Results in Decreased Antibody Responses to an Adeno-Associated Virus Vector in Murine Pompe Disease

    Biores Open Access

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  • February 2012

    Autophagy and Mitochondria in Pompe Disease: Nothing is so New as What Has Long Been Forgotten

    American Journal of Medical Genetics

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  • January 2012

    Spinal Delivery of AAV Vector Restores Enzyme Activity and Increases Ventilation in Pompe Mice

    The American Society of Gene and Cell Therapy

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  • December 2011

    Genetic Implications of Newborn Screening

    Acid Maltase Deficiency Association

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  • September 2011

    Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation.

    Wiley Online Library

    Abstract
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  • September 2011

    Facial-Muscle Weakness, Speech Disorders and Dysphagia are Common in Patients with Classic Infantile Pompe Disease Treated with Enzyme Therapy

    Journal of Inherited Metabolic Disorders

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  • June 2011

    Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

    Orphanet Journal of Rare Diseases

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  • May 2011

    Pompe disease gene therapy

    Human Molecular Genetics

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  • May 2011

    Suction-Modified Bergstrom Muscle Biopsy Technique: Experience with 13500 Procedures

    Muscle and Nerve

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  • April 2011

    Burden of illness of Pompe disease in patients only receiving supportive care

    Journal of Inherited Metabolic Disease

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  • February 2011

    Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

    Molecular Genetics and Metabolism

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  • December 2010

    Where do we stand in enzyme replacement therapy in Pompe’s disease?

    Neuromuscular Disorders

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  • November 2010

    Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease

    The Journal of Gene Medicine

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  • September 2010

    Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

    Neurmuscular Disorders

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  • August 2010

    Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

    Molecular Genetics and Metabolism

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  • August 2010

    Hydrostatic Isolated Limb Perfusion with Adeno-associated Virus Vectors Enhances Correction of Skeletal Muscle in Pompe Disease

    Gene Therapy

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  • August 2010

    Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease

    Molecular Genetics and Metabolism (Abstract Only)

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  • July 2010

    Use of Cardiac Magnetic Resonance Imaging to Evaluate Cardiac Structure

    Molecular Genetics Metabolism

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  • July 2010

    Hearing loss in Pompe disease revisited: results from a study of 24 children

    Journal of Inherited Metabolic Disease

    Abstract
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  • July 2010

    Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

    Blood (Abstract Only)

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  • June 2010

    Low bone mass in Pompe disease: Muscular strength as a predictor of bone mineral density

    Bone

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  • June 2010

    Termination of autophagy and reformation of lysosomes regulated by mTOR

    Nature

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  • April 2010

    A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

    The NEW ENGLAND JOURNAL of MEDICINE

    Abstract
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  • April 2010

    The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease

    Genetics in Medicine, Courtesy of Monty Frost

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  • January 2010

    Therapy for Lysosomal Storage Disorders

    Life

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  • December 2009

    Immunomodulatory Gene Therapy in Lysosomal Storage Disorders

    Current Gene Therapy

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  • November 2009

    Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa

    Molecular Genetics and Metabolism (Abstract Only)

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  • November 2009

    Fatigue in neuromuscular disorders: Focus on Guillain-Barré syndrome and Pompe disease

    Cellular and Molecular Life Sciences

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  • October 2009

    Therapeutic approaches in Glycogen Storage Disease type II (GSDII)/Pompe disease

    Neurotherapeutics

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  • September 2009

    Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

    Pediatric Research

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  • August 2009

    Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

    Molecular Genetics and Metabolism

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  • August 2009

    Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease

    Molecular Therapy

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  • July 2009

    The values and limits of an in vitro model of Pompe disease: The best laid schemes o' mice an' men.

    Autophagy

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  • June 2009

    Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

    Molecular Therapy

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  • June 2009

    The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

    Molecular Therapy

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  • April 2009

    Murine Muscle Cell Models for Pompe Disease and Their Use in Studying Therapeutic Approaches

    Molecular Genetics and Metabolism

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  • April 2009

    Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease

    Case Reports in Medicine

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  • February 2009

    Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease

    Neuromuscular Disorders (Abstract Only)

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  • September 2008

    A Dutch guideline for the treatment of scoliosis in neuromuscular disorders

    Scoliosis

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  • June 2008

    Correction of Multiple Striated Muscles in Murine Pompe Disease Through Adeno-associated Virus–mediated Gene Therapy

    Molecular Therapy

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  • June 2008

    Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

    Neuromuscular Disorders (Abstract Only)

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  • December 2007

    Deconstructing Pompe Disease by Analyzing Single Muscle Fibers

    Autophagy

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  • November 2007

    Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance

    The American Journal of Human Genetics

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  • January 2007

    Fractures in children with Pompe disease: a potential long-term complication

    Pediatric Radiology

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  • September 2006

    Hyaluronidase increases the biodistribution of acid a-14, glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy

    Biochemical and Biophysical Research Communications, Courtesy of Jared Salbato

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  • September 2006

    Chemical chaperones inprove transport and enhance stability of mutant a-glucosidases in glycogen storage disease type II

    Molecular Genetics and Metabolism, Spetember 2006, Courtesy of Jared Salbato

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  • August 2006

    Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease

    Molecular Therapy, August 2006, Courtesy of Jared Salbato

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  • April 2006

    Dysfunction of Endocytic and Autophagic Pathways in a Lysosomal Storage Disease (Annals of Neurology, April 2006)

    Annals of Neurology, April 2006, Courtesy of Jared Salbato

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  • January 2006

    Characterization of Pre- and Post-Treatment Pathology After Enzyme Replacement Therapy for Pompe Disease

    Laboratory Investigations, 2006, Courtesy of Jared Salbato

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  • July 2005

    Evasion of Immune Responses to Introduced Human Acid alpha-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II

    Molecular Therapy, July 2005, Courtesy of Jared Salbato

    Abstract
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  • June 2005

    Correction of Glycogen Storage Disease Type II by an Adeno-associated Virus Vector Containing a Muscle-Specific Promoter

    Molecular Therapy, June 2005, courtesy of Jared Salbato

    Abstract
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  • June 2005

    Disease severity in children and adults with Pompe disease related to age and disease duration

    Neurology, June 2005, Courtesy of the IPA Web Site

    Abstract
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  • April 2005

    Sustained correction of glycogen storage disease type II using adeno-associated virus serotype I vectors

    Gene Therapy, April 2005, Courtesy of Jared Salbato

    Abstract
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  • January 2005

    Impact of Humoral Immune Response on Distribution and Efficacy of Recombinant Adeno-Associated Virus-Derived Acid a-Glucosidase in a Model of Glycogen Storage Disease Type II

    Human Gene Therapy, January 2005, courtesy of George Fox

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  • January 2005

    Efficacy of an Adeno-associated Virus 8-Pseudotyped Vector in Glycogen Storage Disease Type II

    Molecular Therapy, January 2005, courtesy of Monty Frost

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  • January 2005

    Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

    Brain: A Journal of Neurology, January 2005, courtesy of the IPA Web Site

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  • November 2004

    Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid a-Glucosidase Improves the Clearance of Glycogen in Pompe Mice

    Journal of Biological Chemistry, November 2004

    Abstract
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  • November 2004

    Late-onset Pompe disease primarily affects quality of life in physical health domains

    Annals of Neurology, November 2004, courtesy of the IPA Web Site

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  • September 2004

    Enhanced tissue delivery of acid alpha-glucosidase

    Journal of Biological Chemistry, September 2004, courtesy of Jared Salbato

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  • August 2004

    Lipoprotein Receptor Binding, Cellular Uptake, and Lysosomal Delivery of Fusions between the Receptor-associated Protein (RAP) and a-L-Iduronidase or Acid a-Glucosidase

    Journal of Biological Chemistry, August 2004, courtesy of Jared Salbato

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  • May 2004

    Pompe’s Disease. World Succes with a Setback: Laborious Production of the Medicine

    Erasmus Monitor, April/May 2004, courtesy IPA Web Site

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  • May 2004

    Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human Alpha-Glucosidase From Milk

    Pediatrics, May 2004, courtesy of Gezinus Wolters

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  • March 2004

    Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease

    Development, March 2004, courtesy of Jared Salbato

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  • March 2004

    Virus Vector Delivery to Murine Diaphragm (Gene Therapy for Pompe's Disease a.o.)

    Molecular Therapy, March 2004, courtesy Gezinus Wolters

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  • October 2003

    Correction/mutation of acid a-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies

    Gene Therapy, October 2003

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  • August 2003

    The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

    Pediatrics, August 2003

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  • July 2000

    Recombinant human alpha-glucosidase from rabbit milk in Pompe patients

    Lancet, July 2000

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  • February 1998

    Clinical and Metabolic Correction of Pompe Disease by Enzyme Therapy in Acid Maltase–deficient Quail

    Journal of Clinical Investigations, February 1998

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  • May 1997

    Dietary treatment in late-onset acid maltase deficiency

    European Journal of Pediatrics, 1997

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  • January 1936

    J.C. Pompe's Thesis: Cardiomegalia Glycogenica

    Courtesy of Gezinus Wolters' Homepage (The thesis itself is in Dutch, but there are French and English Summaries on the last few pages)

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